-
2
-
-
84900406282
-
Histopathology reveals correlative and unique phenotypes in a high-throughput mouse phenotyping screen
-
,,, et al.. ;:-
-
Adissu HA,Estabel J,Sunter D, et al.Histopathology reveals correlative and unique phenotypes in a high-throughput mouse phenotyping screen.Dis Model Mech. 2014;7:515-524
-
(2014)
Dis Model Mech
, vol.7
, pp. 515-524
-
-
Adissu, H.A.1
Estabel, J.2
Sunter, D.3
-
3
-
-
0017162819
-
A human syndrome caused by immotile cilia
-
Afzelius BA.A human syndrome caused by immotile cilia.Science. 1976;193:317-319
-
(1976)
Science
, vol.193
, pp. 317-319
-
-
Afzelius, B.A.1
-
4
-
-
84908535721
-
Renal-retinal ciliopathy gene Sdccag8 regulates DNA damage response signaling [published online April 10, 2014]
-
,,, et al.. :
-
Airik R,Slaats GG,Guo Z, et al.Renal-retinal ciliopathy gene Sdccag8 regulates DNA damage response signaling [published online April 10, 2014].J Am Soc Nephrol.:
-
J Am Soc Nephrol
-
-
Airik, R.1
Slaats, G.G.2
Guo, Z.3
-
5
-
-
0027238893
-
Juvenile cystic kidneys (jck): a new mouse mutation which causes polycystic kidneys
-
,,, et al.. ;:-
-
Atala A,Freeman MR,Mandell J, et al.Juvenile cystic kidneys (jck): a new mouse mutation which causes polycystic kidneys.Kidney Int. 1993;43:1081-1085
-
(1993)
Kidney Int
, vol.43
, pp. 1081-1085
-
-
Atala, A.1
Freeman, M.R.2
Mandell, J.3
-
6
-
-
34547547119
-
Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis
-
,,, et al.. ;:-
-
Attanasio M,Uhlenhaut NH,Sousa VH, et al.Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis.Nat Genet. 2007;39:1018-1024
-
(2007)
Nat Genet
, vol.39
, pp. 1018-1024
-
-
Attanasio, M.1
Uhlenhaut, N.H.2
Sousa, V.H.3
-
7
-
-
31144478298
-
Dissection of epistasis in oligogenic Bardet-Biedl syndrome
-
,,, et al.. ;:-
-
Badano JL,Leitch CC,Ansley SJ, et al.Dissection of epistasis in oligogenic Bardet-Biedl syndrome.Nature. 2006;439:326-330
-
(2006)
Nature
, vol.439
, pp. 326-330
-
-
Badano, J.L.1
Leitch, C.C.2
Ansley, S.J.3
-
8
-
-
0038744241
-
Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome
-
,,, et al.. ;:-
-
Beales PL,Badano JL,Ross AJ, et al.Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome.Am J Hum Genet. 2003;72:1187-1199
-
(2003)
Am J Hum Genet
, vol.72
, pp. 1187-1199
-
-
Beales, P.L.1
Badano, J.L.2
Ross, A.J.3
-
9
-
-
3242686492
-
-
,,, et al. Carroll PMFitzgerald K, ed. Chichester, England: John Wiley & Sons
-
BeltrandelRio H,Kern F,Lanthorn T, et alModel Organisms in Drug Discovery. Carroll PMFitzgerald K, ed. Chichester, England: John Wiley & Sons; 2003:251-279.
-
(2003)
Model Organisms in Drug Discovery
, pp. 251-279
-
-
BeltrandelRio, H.1
Kern, F.2
Lanthorn, T.3
-
11
-
-
41549092173
-
Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia
-
,,, et al.. ;:-
-
Bergmann C,Fliegauf M,Bruchle NO, et al.Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia.Am J Hum Genet. 2008;82:959-970
-
(2008)
Am J Hum Genet
, vol.82
, pp. 959-970
-
-
Bergmann, C.1
Fliegauf, M.2
Bruchle, N.O.3
-
12
-
-
76649137764
-
From central to rudimentary to primary: the history of an underappreciated organelle whose time has come: the primary cilium
-
Bloodgood RA.From central to rudimentary to primary: the history of an underappreciated organelle whose time has come: the primary cilium.Methods Cell Biol. 2009;94:3-52
-
(2009)
Methods Cell Biol
, vol.94
, pp. 3-52
-
-
Bloodgood, R.A.1
-
13
-
-
36849090559
-
Primary ciliary dyskinesia: current state of the art
-
,,, et al.. ;:-
-
Bush A,Chodhari R,Collins N, et al.Primary ciliary dyskinesia: current state of the art.Arch Dis Child. 2007;92:1136-1140
-
(2007)
Arch Dis Child
, vol.92
, pp. 1136-1140
-
-
Bush, A.1
Chodhari, R.2
Collins, N.3
-
14
-
-
84864584531
-
Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling
-
,,, et al.. ;:-
-
Chaki M,Airik R,Ghosh AK, et al.Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling.Cell. 2012;150:533-548
-
(2012)
Cell
, vol.150
, pp. 533-548
-
-
Chaki, M.1
Airik, R.2
Ghosh, A.K.3
-
15
-
-
81155150036
-
Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies
-
,,, et al.. ;:-
-
Chaki M,Hoefele J,Allen SJ, et al.Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies.Kidney Int. 2011;80:1239-1245
-
(2011)
Kidney Int
, vol.80
, pp. 1239-1245
-
-
Chaki, M.1
Hoefele, J.2
Allen, S.J.3
-
16
-
-
33744757686
-
In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse
-
,,, et al.. ;:-
-
Chang B,Khanna H,Hawes N, et al.In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse.Hum Mol Genet. 2006;15:1847-1857
-
(2006)
Hum Mol Genet
, vol.15
, pp. 1847-1857
-
-
Chang, B.1
Khanna, H.2
Hawes, N.3
-
17
-
-
79952578905
-
Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathy
-
,,, et al.. ;:-
-
Cideciyan AV,Rachel RA,Aleman TS, et al.Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathy.Hum Mol Genet. 2011;20:1411-1423
-
(2011)
Hum Mol Genet
, vol.20
, pp. 1411-1423
-
-
Cideciyan, A.V.1
Rachel, R.A.2
Aleman, T.S.3
-
18
-
-
84860234766
-
Meckelin is necessary for photoreceptor intraciliary transport and outer segment morphogenesis
-
,,, et al.. ;:-
-
Collin GB,Won J,Hicks WL, et al.Meckelin is necessary for photoreceptor intraciliary transport and outer segment morphogenesis.Invest Ophthalmol Vis Sci. 2012;53:967-974
-
(2012)
Invest Ophthalmol Vis Sci
, vol.53
, pp. 967-974
-
-
Collin, G.B.1
Won, J.2
Hicks, W.L.3
-
19
-
-
65249154276
-
A mouse model for Meckel syndrome type 3
-
,,, et al.. ;:-
-
Cook SA,Collin GB,Bronson RT, et al.A mouse model for Meckel syndrome type 3.J Am Soc Nephrol. 2009;20:753-764
-
(2009)
J Am Soc Nephrol
, vol.20
, pp. 753-764
-
-
Cook, S.A.1
Collin, G.B.2
Bronson, R.T.3
-
20
-
-
78149296423
-
CEP290, a gene with many faces: mutation overview and presentation of CEP290base
-
,,, et al.. ;:-
-
Coppieters F,Lefever S,Leroy BP, et al.CEP290, a gene with many faces: mutation overview and presentation of CEP290base.Hum Mutat. 2010;31:1097-1108
-
(2010)
Hum Mutat
, vol.31
, pp. 1097-1108
-
-
Coppieters, F.1
Lefever, S.2
Leroy, B.P.3
-
21
-
-
84859264546
-
The ciliary transition zone: from morphology and molecules to medicine
-
Czarnecki PG,Shah JV.The ciliary transition zone: from morphology and molecules to medicine.Trends Cell Biol. 2012;22:201-210
-
(2012)
Trends Cell Biol
, vol.22
, pp. 201-210
-
-
Czarnecki, P.G.1
Shah, J.V.2
-
22
-
-
84862507047
-
The ciliopathies: a transitional model into systems biology of human genetic disease
-
Davis EE,Katsanis N.The ciliopathies: a transitional model into systems biology of human genetic disease.Curr Opin Genet Dev. 2012;22:290-303
-
(2012)
Curr Opin Genet Dev
, vol.22
, pp. 290-303
-
-
Davis, E.E.1
Katsanis, N.2
-
23
-
-
0035161149
-
Hypertension in autosomal-dominant polycystic kidney disease: early occurrence and unique aspects
-
Ecder T,Schrier RW.Hypertension in autosomal-dominant polycystic kidney disease: early occurrence and unique aspects.J Am Soc Nephrol. 2001;12:194-200
-
(2001)
J Am Soc Nephrol
, vol.12
, pp. 194-200
-
-
Ecder, T.1
Schrier, R.W.2
-
24
-
-
8344238889
-
Cystic kidney diseases: learning from animal models
-
,,, et al.. ;:-
-
Fischer E,Gresh L,Reimann A, et al.Cystic kidney diseases: learning from animal models.Nephrol Dial Transplant. 2004;19:2700-2702
-
(2004)
Nephrol Dial Transplant
, vol.19
, pp. 2700-2702
-
-
Fischer, E.1
Gresh, L.2
Reimann, A.3
-
26
-
-
79960900387
-
A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition
-
,,, et al.. ;:-
-
Garcia-Gonzalo FR,Corbit KC,Sirerol-Piquer MS, et al.A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition.Nat Genet. 2011;43:776-784
-
(2011)
Nat Genet
, vol.43
, pp. 776-784
-
-
Garcia-Gonzalo, F.R.1
Corbit, K.C.2
Sirerol-Piquer, M.S.3
-
27
-
-
0029930829
-
Murine autosomal recessive polycystic kidney disease with multiorgan involvement induced by the cpk gene
-
Gattone VH,MacNaughton KA,Kraybill AL.Murine autosomal recessive polycystic kidney disease with multiorgan involvement induced by the cpk gene.Anat Rec. 1996;245:488-499
-
(1996)
Anat Rec
, vol.245
, pp. 488-499
-
-
Gattone, V.H.1
MacNaughton, K.A.2
Kraybill, A.L.3
-
28
-
-
1842614362
-
Development of multiorgan pathology in the wpk rat model of polycystic kidney disease
-
,,, et al.. ;:-
-
Gattone VH,Tourkow BA,Trambaugh CM, et al.Development of multiorgan pathology in the wpk rat model of polycystic kidney disease.Anat Rec A Discov Mol Cell Evol Biol. 2004;277:384-395
-
(2004)
Anat Rec A Discov Mol Cell Evol Biol
, vol.277
, pp. 384-395
-
-
Gattone, V.H.1
Tourkow, B.A.2
Trambaugh, C.M.3
-
29
-
-
4644225352
-
Primary ciliary dyskinesia: genes, candidate genes and chromosomal regions
-
Geremek M,Witt M.Primary ciliary dyskinesia: genes, candidate genes and chromosomal regions.J Appl Genet. 2004;45:347-361
-
(2004)
J Appl Genet
, vol.45
, pp. 347-361
-
-
Geremek, M.1
Witt, M.2
-
30
-
-
80052259229
-
Apoptosis in polycystic kidney disease
-
Goilav B.Apoptosis in polycystic kidney disease.Biochim Biophys Acta. 2011;1812:1272-1280
-
(2011)
Biochim Biophys Acta
, vol.1812
, pp. 1272-1280
-
-
Goilav, B.1
-
31
-
-
53549114498
-
Large-scale gene trapping in C57BL/6 N mouse embryonic stem cells
-
,,, et al.. ;:-
-
Hansen GM,Markesich DC,Burnett MB, et al.Large-scale gene trapping in C57BL/6 N mouse embryonic stem cells.Genome Res. 2008;18:1670-1679
-
(2008)
Genome Res
, vol.18
, pp. 1670-1679
-
-
Hansen, G.M.1
Markesich, D.C.2
Burnett, M.B.3
-
34
-
-
28844460656
-
Cilia and centrosomes: a unifying pathogenic concept for cystic kidney disease?
-
Hildebrandt F,Otto E.Cilia and centrosomes: a unifying pathogenic concept for cystic kidney disease?.Nat Rev Genet. 2005;6:928-940
-
(2005)
Nat Rev Genet
, vol.6
, pp. 928-940
-
-
Hildebrandt, F.1
Otto, E.2
-
35
-
-
0030868540
-
A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1
-
,,, et al.. ;:-
-
Hildebrandt F,Otto E,Rensing C, et al.A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1.Nat Genet. 1997;17:149-153
-
(1997)
Nat Genet
, vol.17
, pp. 149-153
-
-
Hildebrandt, F.1
Otto, E.2
Rensing, C.3
-
36
-
-
34249871086
-
Nephronophthisis-associated ciliopathies
-
Hildebrandt F,Zhou W.Nephronophthisis-associated ciliopathies.J Am Soc Nephrol. 2007;18:1855-1871
-
(2007)
J Am Soc Nephrol
, vol.18
, pp. 1855-1871
-
-
Hildebrandt, F.1
Zhou, W.2
-
37
-
-
34948824296
-
Evidence of oligogenic inheritance in nephronophthisis
-
,,, et al.. ;:-
-
Hoefele J,Wolf MT,O’Toole JF, et al.Evidence of oligogenic inheritance in nephronophthisis.J Am Soc Nephrol. 2007;18:2789-2795
-
(2007)
J Am Soc Nephrol
, vol.18
, pp. 2789-2795
-
-
Hoefele, J.1
Wolf, M.T.2
O’Toole, J.F.3
-
38
-
-
84868613964
-
Functional polycystin-1 dosage governs autosomal dominant polycystic kidney disease severity
-
,,, et al.. ;:-
-
Hopp K,Ward CJ,Hommerding CJ, et al.Functional polycystin-1 dosage governs autosomal dominant polycystic kidney disease severity.J Clin Invest. 2012;122:4257-4273
-
(2012)
J Clin Invest
, vol.122
, pp. 4257-4273
-
-
Hopp, K.1
Ward, C.J.2
Hommerding, C.J.3
-
39
-
-
83455253776
-
TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone
-
,,, et al.. ;:-
-
Huang L,Szymanska K,Jensen VL, et al.TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone.Am J Hum Genet. 2011;89:713-730
-
(2011)
Am J Hum Genet
, vol.89
, pp. 713-730
-
-
Huang, L.1
Szymanska, K.2
Jensen, V.L.3
-
40
-
-
78649910328
-
Mechanisms of nephronophthisis and related ciliopathies
-
Hurd TW,Hildebrandt F.Mechanisms of nephronophthisis and related ciliopathies.Nephron Exp Nephrol. 2011;118:e9-e14
-
(2011)
Nephron Exp Nephrol
, vol.118
, pp. 9-14
-
-
Hurd, T.W.1
Hildebrandt, F.2
-
41
-
-
49449101281
-
Intraflagellar transport and the sensory outer segment of vertebrate photoreceptors
-
Insinna C,Besharse JC.Intraflagellar transport and the sensory outer segment of vertebrate photoreceptors.Dev Dyn. 2008;237:1982-1992
-
(2008)
Dev Dyn
, vol.237
, pp. 1982-1992
-
-
Insinna, C.1
Besharse, J.C.2
-
42
-
-
64549163214
-
Essential role of nephrocystin in photoreceptor intraflagellar transport in mouse
-
,,, et al.. ;:-
-
Jiang ST,Chiou YY,Wang E, et al.Essential role of nephrocystin in photoreceptor intraflagellar transport in mouse.Hum Mol Genet. 2009;18:1566-1577
-
(2009)
Hum Mol Genet
, vol.18
, pp. 1566-1577
-
-
Jiang, S.T.1
Chiou, Y.Y.2
Wang, E.3
-
43
-
-
54449093278
-
Targeted disruption of Nphp1 causes male infertility due to defects in the later steps of sperm morphogenesis in mice
-
,,, et al.. ;:-
-
Jiang ST,Chiou YY,Wang E, et al.Targeted disruption of Nphp1 causes male infertility due to defects in the later steps of sperm morphogenesis in mice.Hum Mol Genet. 2008;17:3368-3379
-
(2008)
Hum Mol Genet
, vol.17
, pp. 3368-3379
-
-
Jiang, S.T.1
Chiou, Y.Y.2
Wang, E.3
-
44
-
-
1842579395
-
The oligogenic properties of Bardet-Biedl syndrome
-
Katsanis N.The oligogenic properties of Bardet-Biedl syndrome.Hum Mol Genet. 2004;13 (spec no. 1): R65-R71
-
(2004)
Hum Mol Genet
, vol.13
, Issue.spec1
, pp. 65-71
-
-
Katsanis, N.1
-
45
-
-
67349141319
-
A common allele in RPGRIP1 L is a modifier of retinal degeneration in ciliopathies
-
,,, et al.. ;:-
-
Khanna H,Davis EE,Murga-Zamalloa CA, et al.A common allele in RPGRIP1 L is a modifier of retinal degeneration in ciliopathies.Nat Genet. 2009;41:739-745
-
(2009)
Nat Genet
, vol.41
, pp. 739-745
-
-
Khanna, H.1
Davis, E.E.2
Murga-Zamalloa, C.A.3
-
46
-
-
77954940556
-
The transcriptional programme of contact-inhibition
-
,,, et al.. ;:-
-
Kuppers M,Ittrich C,Faust D, et al.The transcriptional programme of contact-inhibition.J Cell Biochem. 2010;110:1234-1243
-
(2010)
J Cell Biochem
, vol.110
, pp. 1234-1243
-
-
Kuppers, M.1
Ittrich, C.2
Faust, D.3
-
47
-
-
0015799818
-
Kinetics of rod outer segment renewal in the developing mouse retina
-
LaVail MM.Kinetics of rod outer segment renewal in the developing mouse retina.J Cell Biol. 1973;58:650-661
-
(1973)
J Cell Biol
, vol.58
, pp. 650-661
-
-
LaVail, M.M.1
-
48
-
-
0141542568
-
RP1 is required for the correct stacking of outer segment discs
-
,,, et al.. ;:-
-
Liu Q,Lyubarsky A,Skalet JH, et al.RP1 is required for the correct stacking of outer segment discs.Invest Ophthalmol Vis Sci. 2003;44:4171-4183
-
(2003)
Invest Ophthalmol Vis Sci
, vol.44
, pp. 4171-4183
-
-
Liu, Q.1
Lyubarsky, A.2
Skalet, J.H.3
-
49
-
-
84930162894
-
Cystic kidney diseases: many ways to form a cyst [published online June 27, 2012]
-
Loftus H,Ong AC.Cystic kidney diseases: many ways to form a cyst [published online June 27, 2012].Pediatr Nephrol.:
-
Pediatr Nephrol
-
-
Loftus, H.1
Ong, A.C.2
-
50
-
-
0001262983
-
Hereditary renal dysplasia and blindness
-
,,, et al.. ;:-
-
Loken AC,Hanssen O,Halvorsen S, et al.Hereditary renal dysplasia and blindness.Acta Paediatr. 1961;50:177-184
-
(1961)
Acta Paediatr
, vol.50
, pp. 177-184
-
-
Loken, A.C.1
Hanssen, O.2
Halvorsen, S.3
-
51
-
-
75749156683
-
AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis
-
,,, et al.. ;:-
-
Louie CM,Caridi G,Lopes VS, et al.AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis.Nat Genet. 2010;42:175-180
-
(2010)
Nat Genet
, vol.42
, pp. 175-180
-
-
Louie, C.M.1
Caridi, G.2
Lopes, V.S.3
-
52
-
-
46249097666
-
Non-random distribution and sensory functions of primary cilia in vascular smooth muscle cells
-
,,, et al.. ;:-
-
Lu CJ,Du H,Wu J, et al.Non-random distribution and sensory functions of primary cilia in vascular smooth muscle cells.Kidney Blood Press Res. 2008;31:171-184
-
(2008)
Kidney Blood Press Res
, vol.31
, pp. 171-184
-
-
Lu, C.J.1
Du, H.2
Wu, J.3
-
53
-
-
0035340514
-
Cardiopulmonary malformations in the inv/inv mouse
-
,,, et al.. ;:-
-
McQuinn TC,Miga DE,Mjaatvedt CH, et al.Cardiopulmonary malformations in the inv/inv mouse.Anat Rec. 2001;263:62-71
-
(2001)
Anat Rec
, vol.263
, pp. 62-71
-
-
McQuinn, T.C.1
Miga, D.E.2
Mjaatvedt, C.H.3
-
54
-
-
0034107313
-
Primary ciliary dyskinesia (PCD)
-
Meeks M,Bush A.Primary ciliary dyskinesia (PCD).Pediatr Pulmonol. 2000;29:307-316
-
(2000)
Pediatr Pulmonol
, vol.29
, pp. 307-316
-
-
Meeks, M.1
Bush, A.2
-
55
-
-
18644368159
-
The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin
-
,,, et al.. ;:-
-
Mollet G,Salomon R,Gribouval O, et al.The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin.Nat Genet. 2002;32:300-305
-
(2002)
Nat Genet
, vol.32
, pp. 300-305
-
-
Mollet, G.1
Salomon, R.2
Gribouval, O.3
-
56
-
-
14644403727
-
Characterization of the nephrocystin/nephrocystin-4 complex and subcellular localization of nephrocystin-4 to primary cilia and centrosomes
-
,,, et al.. ;:-
-
Mollet G,Silbermann F,Delous M, et al.Characterization of the nephrocystin/nephrocystin-4 complex and subcellular localization of nephrocystin-4 to primary cilia and centrosomes.Hum Mol Genet. 2005;14:645-656
-
(2005)
Hum Mol Genet
, vol.14
, pp. 645-656
-
-
Mollet, G.1
Silbermann, F.2
Delous, M.3
-
57
-
-
17344366038
-
Inversin, a novel gene in the vertebrate left-right axis pathway, is partially deleted in the inv mouse
-
,,, et al.. ;:-
-
Morgan D,Turnpenny L,Goodship J, et al.Inversin, a novel gene in the vertebrate left-right axis pathway, is partially deleted in the inv mouse.Nat Genet. 1998;20:149-156
-
(1998)
Nat Genet
, vol.20
, pp. 149-156
-
-
Morgan, D.1
Turnpenny, L.2
Goodship, J.3
-
58
-
-
84862516675
-
The mechanosensory role of primary cilia in vascular hypertension
-
Nauli SM,Jin X,Hierck BP.The mechanosensory role of primary cilia in vascular hypertension.Int J Vasc Med. 2011;2011:376281
-
(2011)
Int J Vasc Med
, vol.2011
, pp. 376281
-
-
Nauli, S.M.1
Jin, X.2
Hierck, B.P.3
-
59
-
-
0033672204
-
New rat model that phenotypically resembles autosomal recessive polycystic kidney disease
-
,,, et al.. ;:-
-
Nauta J,Goedbloed MA,Herck HV, et al.New rat model that phenotypically resembles autosomal recessive polycystic kidney disease.J Am Soc Nephrol. 2000;11:2272-2284
-
(2000)
J Am Soc Nephrol
, vol.11
, pp. 2272-2284
-
-
Nauta, J.1
Goedbloed, M.A.2
Herck, H.V.3
-
60
-
-
34250823708
-
Altered expression of genes involved in regulation of vitamin A metabolism, solute transportation, and cytoskeletal function in the androgen-insensitive tfm mouse testis
-
,,, et al.. ;:-
-
O’Shaughnessy PJ,Abel M,Charlton HM, et al.Altered expression of genes involved in regulation of vitamin A metabolism, solute transportation, and cytoskeletal function in the androgen-insensitive tfm mouse testis.Endocrinology. 2007;148:2914-2924
-
(2007)
Endocrinology
, vol.148
, pp. 2914-2924
-
-
O’Shaughnessy, P.J.1
Abel, M.2
Charlton, H.M.3
-
61
-
-
77949865316
-
Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy
-
,,, et al.. ;:-
-
O’Toole JF,Liu Y,Davis EE, et al.Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy.J Clin Invest. 2010;120:791-802
-
(2010)
J Clin Invest
, vol.120
, pp. 791-802
-
-
O’Toole, J.F.1
Liu, Y.2
Davis, E.E.3
-
62
-
-
0042093746
-
Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis
-
,,, et al.. ;:-
-
Olbrich H,Fliegauf M,Hoefele J, et al.Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis.Nat Genet. 2003;34:455-459
-
(2003)
Nat Genet
, vol.34
, pp. 455-459
-
-
Olbrich, H.1
Fliegauf, M.2
Hoefele, J.3
-
63
-
-
0035168306
-
Human adolescent nephronophthisis: gene locus synteny with polycystic kidney disease in pcy mice
-
,,, et al.. ;:-
-
Omran H,Haffner K,Burth S, et al.Human adolescent nephronophthisis: gene locus synteny with polycystic kidney disease in pcy mice.J Am Soc Nephrol. 2001;12:107-113
-
(2001)
J Am Soc Nephrol
, vol.12
, pp. 107-113
-
-
Omran, H.1
Haffner, K.2
Burth, S.3
-
64
-
-
0036842902
-
A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution
-
,,, et al.. ;:-
-
Otto E,Hoefele J,Ruf R, et al.A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution.Am J Hum Genet. 2002;71:1161-1167
-
(2002)
Am J Hum Genet
, vol.71
, pp. 1161-1167
-
-
Otto, E.1
Hoefele, J.2
Ruf, R.3
-
65
-
-
77957557692
-
Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy
-
,,, et al.. ;:-
-
Otto EA,Hurd TW,Airik R, et al.Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy.Nat Genet. 2010;42:840-850
-
(2010)
Nat Genet
, vol.42
, pp. 840-850
-
-
Otto, E.A.1
Hurd, T.W.2
Airik, R.3
-
66
-
-
20144375842
-
Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin
-
,,, et al.. ;:-
-
Otto EA,Loeys B,Khanna H, et al.Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin.Nat Genet. 2005;37:282-288
-
(2005)
Nat Genet
, vol.37
, pp. 282-288
-
-
Otto, E.A.1
Loeys, B.2
Khanna, H.3
-
67
-
-
79551634466
-
Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy
-
,,, et al.. ;:-
-
Otto EA,Ramaswami G,Janssen S, et al.Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy.J Med Genet. 2011;48:105-116
-
(2011)
J Med Genet
, vol.48
, pp. 105-116
-
-
Otto, E.A.1
Ramaswami, G.2
Janssen, S.3
-
68
-
-
0041592700
-
Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination
-
,,, et al.. ;:-
-
Otto EA,Schermer B,Obara T, et al.Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination.Nat Genet. 2003;34:413-420
-
(2003)
Nat Genet
, vol.34
, pp. 413-420
-
-
Otto, E.A.1
Schermer, B.2
Obara, T.3
-
69
-
-
80054027552
-
Frizzled 4 is required for retinal angiogenesis and maintenance of the blood-retina barrier
-
,,, et al.. ;:-
-
Paes KT,Wang E,Henze K, et al.Frizzled 4 is required for retinal angiogenesis and maintenance of the blood-retina barrier.Invest Ophthalmol Vis Sci. 2011;52:6452-6461
-
(2011)
Invest Ophthalmol Vis Sci
, vol.52
, pp. 6452-6461
-
-
Paes, K.T.1
Wang, E.2
Henze, K.3
-
70
-
-
0036544554
-
The intraflagellar transport protein, IFT88, is essential for vertebrate photoreceptor assembly and maintenance
-
,,, et al.. ;:-
-
Pazour GJ,Baker SA,Deane JA, et al.The intraflagellar transport protein, IFT88, is essential for vertebrate photoreceptor assembly and maintenance.J Cell Biol. 2002;157:103-113
-
(2002)
J Cell Biol
, vol.157
, pp. 103-113
-
-
Pazour, G.J.1
Baker, S.A.2
Deane, J.A.3
-
72
-
-
3042618920
-
Renal cysts of inv/inv mice resemble early infantile nephronophthisis
-
,,, et al.. ;:-
-
Phillips CL,Miller KJ,Filson AJ, et al.Renal cysts of inv/inv mice resemble early infantile nephronophthisis.J Am Soc Nephrol. 2004;15:1744-1755
-
(2004)
J Am Soc Nephrol
, vol.15
, pp. 1744-1755
-
-
Phillips, C.L.1
Miller, K.J.2
Filson, A.J.3
-
73
-
-
34250875018
-
Temporal relationship between renal cyst development, hypertension and cardiac hypertrophy in a new rat model of autosomal recessive polycystic kidney disease
-
,,, et al.. ;:-
-
Phillips JK,Hopwood D,Loxley RA, et al.Temporal relationship between renal cyst development, hypertension and cardiac hypertrophy in a new rat model of autosomal recessive polycystic kidney disease.Kidney Blood Press Res. 2007;30:129-144
-
(2007)
Kidney Blood Press Res
, vol.30
, pp. 129-144
-
-
Phillips, J.K.1
Hopwood, D.2
Loxley, R.A.3
-
74
-
-
84859731666
-
Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis
-
,,, et al.. ;:-
-
Rachel RA,May-Simera HL,Veleri S, et al.Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis.J Clin Invest. 2012;122:1233-1245
-
(2012)
J Clin Invest
, vol.122
, pp. 1233-1245
-
-
Rachel, R.A.1
May-Simera, H.L.2
Veleri, S.3
-
75
-
-
79955836601
-
An alternative splicing variant in Clcn7–/– mice prevents osteopetrosis but not neural and retinal degeneration
-
Rajan I,Read R,Small DL,Perrard J,Vogel P.An alternative splicing variant in Clcn7–/– mice prevents osteopetrosis but not neural and retinal degeneration.Vet Pathol. 2011;48:663-675
-
(2011)
Vet Pathol
, vol.48
, pp. 663-675
-
-
Rajan, I.1
Read, R.2
Small, D.L.3
Perrard, J.4
Vogel, P.5
-
76
-
-
79953797118
-
Histopathological and neurological features of Atg4b knockout mice
-
,,, et al.. ;:-
-
Read R,Savelieva K,Baker K, et al.Histopathological and neurological features of Atg4b knockout mice.Vet Pathol. 2011;48:486-494
-
(2011)
Vet Pathol
, vol.48
, pp. 486-494
-
-
Read, R.1
Savelieva, K.2
Baker, K.3
-
77
-
-
0033781807
-
Development of autosomal recessive polycystic kidney disease in BALB/c-cpk/cpk mice
-
,,, et al.. ;:-
-
Ricker JL,Gattone VH,Calvet JP, et al.Development of autosomal recessive polycystic kidney disease in BALB/c-cpk/cpk mice.J Am Soc Nephrol. 2000;11:1837-1847
-
(2000)
J Am Soc Nephrol
, vol.11
, pp. 1837-1847
-
-
Ricker, J.L.1
Gattone, V.H.2
Calvet, J.P.3
-
78
-
-
84871774245
-
Senior-Loken syndrome: a syndromic form of retinal dystrophy associated with nephronophthisis
-
Ronquillo CC,Bernstein PS,Baehr W.Senior-Loken syndrome: a syndromic form of retinal dystrophy associated with nephronophthisis.Vision Res. 2012;75:88-97
-
(2012)
Vision Res
, vol.75
, pp. 88-97
-
-
Ronquillo, C.C.1
Bernstein, P.S.2
Baehr, W.3
-
79
-
-
79955963955
-
A mouse model of hereditary folate malabsorption: deletion of the PCFT gene leads to systemic folate deficiency
-
,,, et al.. ;:-
-
Salojin KV,Cabrera RM,Sun W, et al.A mouse model of hereditary folate malabsorption: deletion of the PCFT gene leads to systemic folate deficiency.Blood. 2011;117:4895-4904
-
(2011)
Blood
, vol.117
, pp. 4895-4904
-
-
Salojin, K.V.1
Cabrera, R.M.2
Sun, W.3
-
81
-
-
79955808192
-
Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways
-
,,, et al.. ;:-
-
Sang L,Miller JJ,Corbit KC, et al.Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways.Cell. 2011;145:513-528
-
(2011)
Cell
, vol.145
, pp. 513-528
-
-
Sang, L.1
Miller, J.J.2
Corbit, K.C.3
-
82
-
-
9844224478
-
A novel gene that encodes a protein with a putative src homology 3 domain is a candidate gene for familial juvenile nephronophthisis
-
,,, et al.. ;:-
-
Saunier S,Calado J,Heilig R, et al.A novel gene that encodes a protein with a putative src homology 3 domain is a candidate gene for familial juvenile nephronophthisis.Hum Mol Genet. 1997;6:2317-2323
-
(1997)
Hum Mol Genet
, vol.6
, pp. 2317-2323
-
-
Saunier, S.1
Calado, J.2
Heilig, R.3
-
84
-
-
33745230448
-
The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4
-
,,, et al.. ;:-
-
Sayer JA,Otto EA,O’Toole JF, et al.The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4.Nat Genet. 2006;38:674-681
-
(2006)
Nat Genet
, vol.38
, pp. 674-681
-
-
Sayer, J.A.1
Otto, E.A.2
O’Toole, J.F.3
-
85
-
-
80053188418
-
Mutations in SDCCAG8/NPHP10 cause Bardet-Biedl syndrome and are associated with penetrant renal disease and absent polydactyly
-
,,, et al.. ;:-
-
Schaefer E,Zaloszyc A,Lauer J, et al.Mutations in SDCCAG8/NPHP10 cause Bardet-Biedl syndrome and are associated with penetrant renal disease and absent polydactyly.Mol Syndromol. 2011;1:273-281
-
(2011)
Mol Syndromol
, vol.1
, pp. 273-281
-
-
Schaefer, E.1
Zaloszyc, A.2
Lauer, J.3
-
86
-
-
84855869656
-
Exploring the elephant: histopathology in high-throughput phenotyping of mutant mice
-
,,, et al.. ;:-
-
Schofield PN,Vogel P,Gkoutos GV, et al.Exploring the elephant: histopathology in high-throughput phenotyping of mutant mice.Dis Model Mech. 2012;5:19-25
-
(2012)
Dis Model Mech
, vol.5
, pp. 19-25
-
-
Schofield, P.N.1
Vogel, P.2
Gkoutos, G.V.3
-
87
-
-
33645455399
-
ADP-ribosylation factor-like 3 is involved in kidney and photoreceptor development
-
,,, et al.. ;:-
-
Schrick JJ,Vogel P,Abuin A, et al.ADP-ribosylation factor-like 3 is involved in kidney and photoreceptor development.Am J Pathol. 2006;168:1288-1298
-
(2006)
Am J Pathol
, vol.168
, pp. 1288-1298
-
-
Schrick, J.J.1
Vogel, P.2
Abuin, A.3
-
88
-
-
0000784877
-
Juvenile familial nephropathy with tapetoretinal degeneration: a new oculorenal dystrophy
-
Senior B,Friedmann AI,Braudo JL.Juvenile familial nephropathy with tapetoretinal degeneration: a new oculorenal dystrophy.Am J Ophthalmol. 1961;52:625-633
-
(1961)
Am J Ophthalmol
, vol.52
, pp. 625-633
-
-
Senior, B.1
Friedmann, A.I.2
Braudo, J.L.3
-
89
-
-
30944440481
-
Autosomal-dominant polycystic kidney disease in infancy and childhood: progression and outcome
-
,,, et al.. ;:-
-
Shamshirsaz AA,Reza Bekheirnia M,Kamgar M, et al.Autosomal-dominant polycystic kidney disease in infancy and childhood: progression and outcome.Kidney Int. 2005;68:2218-2224
-
(2005)
Kidney Int
, vol.68
, pp. 2218-2224
-
-
Shamshirsaz, A.A.1
Reza Bekheirnia, M.2
Kamgar, M.3
-
90
-
-
70350346866
-
Polycystin-1 and -2 dosage regulates pressure sensing
-
,,, et al.. ;:-
-
Sharif-Naeini R,Folgering JH,Bichet D, et al.Polycystin-1 and -2 dosage regulates pressure sensing.Cell. 2009;139:587-596
-
(2009)
Cell
, vol.139
, pp. 587-596
-
-
Sharif-Naeini, R.1
Folgering, J.H.2
Bichet, D.3
-
91
-
-
77951895173
-
Inv acts as a molecular anchor for Nphp3 and Nek8 in the proximal segment of primary cilia
-
,,, et al.. ;:-
-
Shiba D,Manning DK,Koga H, et al.Inv acts as a molecular anchor for Nphp3 and Nek8 in the proximal segment of primary cilia.Cytoskeleton (Hoboken). 2010;67:112-119
-
(2010)
Cytoskeleton (Hoboken)
, vol.67
, pp. 112-119
-
-
Shiba, D.1
Manning, D.K.2
Koga, H.3
-
92
-
-
84855432589
-
Nephronophthisis: a genetically diverse ciliopathy
-
,,, et al.. ;:
-
Simms RJ,Hynes AM,Eley L, et al.Nephronophthisis: a genetically diverse ciliopathy.Int J Nephrol. 2011;2011:527137
-
(2011)
Int J Nephrol
, vol.2011
, pp. 527137
-
-
Simms, R.J.1
Hynes, A.M.2
Eley, L.3
-
94
-
-
33749235323
-
Development of polycystic kidney disease in juvenile cystic kidney mice: insights into pathogenesis, ciliary abnormalities, and common features with human disease
-
,,, et al.. ;:-
-
Smith LA,Bukanov NO,Husson H, et al.Development of polycystic kidney disease in juvenile cystic kidney mice: insights into pathogenesis, ciliary abnormalities, and common features with human disease.J Am Soc Nephrol. 2006;17:2821-2831
-
(2006)
J Am Soc Nephrol
, vol.17
, pp. 2821-2831
-
-
Smith, L.A.1
Bukanov, N.O.2
Husson, H.3
-
95
-
-
31744441248
-
The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat
-
,,, et al.. ;:-
-
Smith UM,Consugar M,Tee LJ, et al.The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat.Nat Genet. 2006;38:191-196
-
(2006)
Nat Genet
, vol.38
, pp. 191-196
-
-
Smith, U.M.1
Consugar, M.2
Tee, L.J.3
-
96
-
-
70349783742
-
Ttc21b is required to restrict sonic hedgehog activity in the developing mouse forebrain
-
,,, et al.. ;:-
-
Stottmann RW,Tran PV,Turbe-Doan A, et al.Ttc21b is required to restrict sonic hedgehog activity in the developing mouse forebrain.Dev Biol. 2009;335:166-178
-
(2009)
Dev Biol
, vol.335
, pp. 166-178
-
-
Stottmann, R.W.1
Tran, P.V.2
Turbe-Doan, A.3
-
97
-
-
0026037722
-
A hereditary model of slowly progressive polycystic kidney disease in the mouse
-
,,, et al.. ;:-
-
Takahashi H,Calvet JP,Dittemore-Hoover D, et al.A hereditary model of slowly progressive polycystic kidney disease in the mouse.J Am Soc Nephrol. 1991;1:980-989
-
(1991)
J Am Soc Nephrol
, vol.1
, pp. 980-989
-
-
Takahashi, H.1
Calvet, J.P.2
Dittemore-Hoover, D.3
-
98
-
-
0022639053
-
A new mouse model of genetically transmitted polycystic kidney disease
-
,,, et al.. ;:-
-
Takahashi H,Ueyama Y,Hibino T, et al.A new mouse model of genetically transmitted polycystic kidney disease.J Urol. 1986;135:1280-1283
-
(1986)
J Urol
, vol.135
, pp. 1280-1283
-
-
Takahashi, H.1
Ueyama, Y.2
Hibino, T.3
-
99
-
-
68749117663
-
Ciliary and centrosomal defects associated with mutation and depletion of the Meckel syndrome genes MKS1 and MKS3
-
,,, et al.. ;:-
-
Tammachote R,Hommerding CJ,Sinders RM, et al.Ciliary and centrosomal defects associated with mutation and depletion of the Meckel syndrome genes MKS1 and MKS3.Hum Mol Genet. 2009;18:3311-3323
-
(2009)
Hum Mol Genet
, vol.18
, pp. 3311-3323
-
-
Tammachote, R.1
Hommerding, C.J.2
Sinders, R.M.3
-
100
-
-
77954491295
-
A mouse knockout library for secreted and transmembrane proteins
-
,,, et al.. ;:-
-
Tang T,Li L,Tang J, et al.A mouse knockout library for secreted and transmembrane proteins.Nat Biotechnol. 2010;28:749-755
-
(2010)
Nat Biotechnol
, vol.28
, pp. 749-755
-
-
Tang, T.1
Li, L.2
Tang, J.3
-
101
-
-
63949085505
-
Mutations of NPHP2 and NPHP3 in infantile nephronophthisis
-
,,, et al.. ;:-
-
Tory K,Rousset-Rouviere C,Gubler MC, et al.Mutations of NPHP2 and NPHP3 in infantile nephronophthisis.Kidney Int. 2009;75:839-847
-
(2009)
Kidney Int
, vol.75
, pp. 839-847
-
-
Tory, K.1
Rousset-Rouviere, C.2
Gubler, M.C.3
-
102
-
-
84855384097
-
Cardiomyopathy in alpha-kinase 3 (ALPK3)-deficient mice
-
,,, et al.. ;:-
-
Van Sligtenhorst I,Ding ZM,Shi ZZ, et al.Cardiomyopathy in alpha-kinase 3 (ALPK3)-deficient mice.Vet Pathol. 2012;49:131-141
-
(2012)
Vet Pathol
, vol.49
, pp. 131-141
-
-
Van Sligtenhorst, I.1
Ding, Z.M.2
Shi, Z.Z.3
-
103
-
-
34547800833
-
Ftm is a novel basal body protein of cilia involved in Shh signalling
-
,,, et al.. ;:-
-
Vierkotten J,Dildrop R,Peters T, et al.Ftm is a novel basal body protein of cilia involved in Shh signalling.Development. 2007;134:2569-2577
-
(2007)
Development
, vol.134
, pp. 2569-2577
-
-
Vierkotten, J.1
Dildrop, R.2
Peters, T.3
-
104
-
-
58149474166
-
Incomplete inhibition of sphingosine 1-phosphate lyase modulates immune system function yet prevents early lethality and non-lymphoid lesions
-
,,, et al.. ;:
-
Vogel P,Donoviel MS,Read R, et al.Incomplete inhibition of sphingosine 1-phosphate lyase modulates immune system function yet prevents early lethality and non-lymphoid lesions.PLoS One. 2009;4:e4112
-
(2009)
PLoS One
, vol.4
, pp. 4112
-
-
Vogel, P.1
Donoviel, M.S.2
Read, R.3
-
105
-
-
77954916671
-
Tubulin tyrosine ligase-like 1 deficiency results in chronic rhinosinusitis and abnormal development of spermatid flagella in mice
-
,,, et al.. ;:-
-
Vogel P,Hansen G,Fontenot G, et al.Tubulin tyrosine ligase-like 1 deficiency results in chronic rhinosinusitis and abnormal development of spermatid flagella in mice.Vet Pathol. 2010;47:703-712
-
(2010)
Vet Pathol
, vol.47
, pp. 703-712
-
-
Vogel, P.1
Hansen, G.2
Fontenot, G.3
-
106
-
-
84868686755
-
Amelogenesis imperfecta and other biomineralization defects in Fam20a and Fam20c null mice
-
,,, et al.. ;:-
-
Vogel P,Hansen GM,Read RW, et al.Amelogenesis imperfecta and other biomineralization defects in Fam20a and Fam20c null mice.Vet Pathol. 2012;49:998-1017
-
(2012)
Vet Pathol
, vol.49
, pp. 998-1017
-
-
Vogel, P.1
Hansen, G.M.2
Read, R.W.3
-
107
-
-
67651043237
-
Comparative pathology of murine mucolipidosis types II and IIIC
-
,,, et al.. ;:-
-
Vogel P,Payne BJ,Read R, et al.Comparative pathology of murine mucolipidosis types II and IIIC.Vet Pathol. 2009;46:313-324
-
(2009)
Vet Pathol
, vol.46
, pp. 313-324
-
-
Vogel, P.1
Payne, B.J.2
Read, R.3
-
108
-
-
77949725811
-
Situs inversus in Dpcd/Poll–/–, Nme7–/–, and Pkd1l1–/– mice
-
,,, et al.. ;:-
-
Vogel P,Read R,Hansen GM, et al.Situs inversus in Dpcd/Poll–/–, Nme7–/–, and Pkd1l1–/– mice.Vet Pathol. 2010;47:120-131
-
(2010)
Vet Pathol
, vol.47
, pp. 120-131
-
-
Vogel, P.1
Read, R.2
Hansen, G.M.3
-
109
-
-
84855363795
-
Congenital hydrocephalus in genetically engineered mice
-
,,, et al.. ;:-
-
Vogel P,Read RW,Hansen GM, et al.Congenital hydrocephalus in genetically engineered mice.Vet Pathol. 2012;49:166-181
-
(2012)
Vet Pathol
, vol.49
, pp. 166-181
-
-
Vogel, P.1
Read, R.W.2
Hansen, G.M.3
-
110
-
-
84872841572
-
Cryptogenic organizing pneumonia in Tomm5(–/–) mice
-
,,, et al.. ;:-
-
Vogel P,Read RW,Rehg JE, et al.Cryptogenic organizing pneumonia in Tomm5(–/–) mice.Vet Pathol. 2013;50:65-75
-
(2013)
Vet Pathol
, vol.50
, pp. 65-75
-
-
Vogel, P.1
Read, R.W.2
Rehg, J.E.3
-
111
-
-
42449137900
-
Ocular albinism and hypopigmentation defects in Slc24a5–/– mice
-
,,, et al.. ;:-
-
Vogel P,Read RW,Vance RB, et al.Ocular albinism and hypopigmentation defects in Slc24a5–/– mice.Vet Pathol. 2008;45:264-279
-
(2008)
Vet Pathol
, vol.45
, pp. 264-279
-
-
Vogel, P.1
Read, R.W.2
Vance, R.B.3
-
112
-
-
0020062324
-
The nephronophthisis complex: a clinicopathologic study in children
-
,,, et al.. ;:-
-
Waldherr R,Lennert T,Weber HP, et al.The nephronophthisis complex: a clinicopathologic study in children.Virchows Arch A Pathol Anat Histol. 1982;394:235-254
-
(1982)
Virchows Arch A Pathol Anat Histol
, vol.394
, pp. 235-254
-
-
Waldherr, R.1
Lennert, T.2
Weber, H.P.3
-
113
-
-
77954403561
-
Retinal degeneration and failure of photoreceptor outer segment formation in mice with targeted deletion of the Joubert syndrome gene, Ahi1
-
,,, et al.. ;:-
-
Westfall JE,Hoyt C,Liu Q, et al.Retinal degeneration and failure of photoreceptor outer segment formation in mice with targeted deletion of the Joubert syndrome gene, Ahi1.J Neurosci. 2010;30:8759-8768
-
(2010)
J Neurosci
, vol.30
, pp. 8759-8768
-
-
Westfall, J.E.1
Hoyt, C.2
Liu, Q.3
-
114
-
-
79955513961
-
MKS and NPHP modules cooperate to establish basal body/transition zone membrane associations and ciliary gate function during ciliogenesis
-
,,, et al.. ;:-
-
Williams CL,Li C,Kida K, et al.MKS and NPHP modules cooperate to establish basal body/transition zone membrane associations and ciliary gate function during ciliogenesis.J Cell Biol. 2011;192:1023-1041
-
(2011)
J Cell Biol
, vol.192
, pp. 1023-1041
-
-
Williams, C.L.1
Li, C.2
Kida, K.3
-
115
-
-
58749103869
-
Mouse models of polycystic kidney disease
-
Wilson PD.Mouse models of polycystic kidney disease.Curr Top Dev Biol. 2008;84:311-350
-
(2008)
Curr Top Dev Biol
, vol.84
, pp. 311-350
-
-
Wilson, P.D.1
-
116
-
-
30544454640
-
The C. elegans homologs of nephrocystin-1 and nephrocystin-4 are cilia transition zone proteins involved in chemosensory perception
-
,,, et al.. ; (): -
-
Winkelbauer ME,Schafer JC,Haycraft CJ, et al.The C. elegans homologs of nephrocystin-1 and nephrocystin-4 are cilia transition zone proteins involved in chemosensory perception.J Cell Sci. 2005;118 (pt 23): 5575-5587
-
(2005)
J Cell Sci
, vol.118
, pp. 5575-5587
-
-
Winkelbauer, M.E.1
Schafer, J.C.2
Haycraft, C.J.3
-
118
-
-
70350697828
-
RPGRIP1 is essential for normal rod photoreceptor outer segment elaboration and morphogenesis
-
,,, et al.. ;:-
-
Won J,Gifford E,Smith RS, et al.RPGRIP1 is essential for normal rod photoreceptor outer segment elaboration and morphogenesis.Hum Mol Genet. 2009;18:4329-4339
-
(2009)
Hum Mol Genet
, vol.18
, pp. 4329-4339
-
-
Won, J.1
Gifford, E.2
Smith, R.S.3
-
119
-
-
78651078413
-
NPHP4 is necessary for normal photoreceptor ribbon synapse maintenance and outer segment formation, and for sperm development
-
,,, et al.. ;:-
-
Won J,Marin de Evsikova C,Smith RS, et al.NPHP4 is necessary for normal photoreceptor ribbon synapse maintenance and outer segment formation, and for sperm development.Hum Mol Genet. 2011;20:482-496
-
(2011)
Hum Mol Genet
, vol.20
, pp. 482-496
-
-
Won, J.1
Marin de Evsikova, C.2
Smith, R.S.3
-
120
-
-
84871730850
-
Ciliary signaling cascades in photoreceptors
-
Yildiz O,Khanna H.Ciliary signaling cascades in photoreceptors.Vision Res. 2012;75:112-116
-
(2012)
Vision Res
, vol.75
, pp. 112-116
-
-
Yildiz, O.1
Khanna, H.2
-
121
-
-
81955167472
-
Co-occurrence of distinct ciliopathy diseases in single families suggests genetic modifiers
-
,,, et al.. ;:-
-
Zaki MS,Sattar S,Massoudi RA, et al.Co-occurrence of distinct ciliopathy diseases in single families suggests genetic modifiers.Am J Med Genet A. 2011;155:3042-3049
-
(2011)
Am J Med Genet A
, vol.155
, pp. 3042-3049
-
-
Zaki, M.S.1
Sattar, S.2
Massoudi, R.A.3
-
122
-
-
10744226663
-
Wnk1 kinase deficiency lowers blood pressure in mice: a gene-trap screen to identify potential targets for therapeutic intervention
-
,,, et al.. ;:-
-
Zambrowicz BP,Abuin A,Ramirez-Solis R, et al.Wnk1 kinase deficiency lowers blood pressure in mice: a gene-trap screen to identify potential targets for therapeutic intervention.Proc Natl Acad Sci U S A. 2003;100:14109-14114
-
(2003)
Proc Natl Acad Sci U S A
, vol.100
, pp. 14109-14114
-
-
Zambrowicz, B.P.1
Abuin, A.2
Ramirez-Solis, R.3
-
123
-
-
0032499252
-
Disruption and sequence identification of 2,000 genes in mouse embryonic stem cells
-
,,, et al.. ;:-
-
Zambrowicz BP,Friedrich GA,Buxton EC, et al.Disruption and sequence identification of 2,000 genes in mouse embryonic stem cells.Nature. 1998;392:608-611
-
(1998)
Nature
, vol.392
, pp. 608-611
-
-
Zambrowicz, B.P.1
Friedrich, G.A.2
Buxton, E.C.3
-
124
-
-
0037267313
-
Knockouts model the 100 best-selling drugs: will they model the next 100?
-
Zambrowicz BP,Sands AT.Knockouts model the 100 best-selling drugs: will they model the next 100?.Nat Rev Drug Discov. 2003;2:38-51
-
(2003)
Nat Rev Drug Discov
, vol.2
, pp. 38-51
-
-
Zambrowicz, B.P.1
Sands, A.T.2
-
125
-
-
0141758327
-
Predicting drug efficacy: knockouts model pipeline drugs of the pharmaceutical industry
-
Zambrowicz BP,Turner CA,Sands AT.Predicting drug efficacy: knockouts model pipeline drugs of the pharmaceutical industry.Curr Opin Pharmacol. 2003;3:563-570
-
(2003)
Curr Opin Pharmacol
, vol.3
, pp. 563-570
-
-
Zambrowicz, B.P.1
Turner, C.A.2
Sands, A.T.3
-
126
-
-
0037389431
-
The retinitis pigmentosa GTPase regulator (RPGR)- interacting protein: subserving RPGR function and participating in disk morphogenesis
-
,,, et al.. ;:-
-
Zhao Y,Hong DH,Pawlyk B, et al.The retinitis pigmentosa GTPase regulator (RPGR)- interacting protein: subserving RPGR function and participating in disk morphogenesis.Proc Natl Acad Sci U S A. 2003;100:3965-3970
-
(2003)
Proc Natl Acad Sci U S A
, vol.100
, pp. 3965-3970
-
-
Zhao, Y.1
Hong, D.H.2
Pawlyk, B.3
-
127
-
-
0019186988
-
Nephronophthisis (medullary cystic disease of the kidney): a study using electron microscopy, immunofluorescence, and a review of the morphological findings
-
,,, et al.. ;:-
-
Zollinger HU,Mihatsch MJ,Edefonti A, et al.Nephronophthisis (medullary cystic disease of the kidney): a study using electron microscopy, immunofluorescence, and a review of the morphological findings.Helv Paediatr Acta. 1980;35:509-530
-
(1980)
Helv Paediatr Acta
, vol.35
, pp. 509-530
-
-
Zollinger, H.U.1
Mihatsch, M.J.2
Edefonti, A.3
|